Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.

Molecular vision - 1 Jan 2014

Sodi Andrea, Mariottini Alessandro, Passerini Ilaria, Murro Vittoria, Tachyla Iryna, Bianchi Benedetta, Menchini Ugo, Torricelli Francesca

Abstract excerpt

PURPOSE: To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). METHODS: Thirty-six Italian patients with a diagnosis of USH were recruited. They received a standard ophthalmologic examination, visual field testing, optical coherence tomography (OCT) scan, and electrophysiological tests. Fluorescein angiography and fundus...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Substitution
Share to Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Myosin VIIa

Share to Myosins

Share to Sequence Deletion

Share to Usher Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 25558175
PMCID: PMC4279600

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome.PMID 25558175Read ↗

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.Semantic proximity Read ↗

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations.Semantic proximity Read ↗

A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.Semantic proximity Read ↗

Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.Semantic proximity Read ↗

Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.Semantic proximity Read ↗

Novel mutations in MYO7A and USH2A in Usher syndrome.Semantic proximity Read ↗

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.Semantic proximity Read ↗

A Genomic Analysis of Usher Syndrome: Population-Scale Prevalence and Therapeutic TargetsSemantic proximity Read ↗

Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.Semantic proximity Read ↗

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.Semantic proximity Read ↗

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.Semantic proximity Read ↗

A novel compound heterozygous variant of MYO7A in Usher syndrome type 1.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.